A survey study, relating to the perception of social and medical assistance in the daily life of rare metabolic patients.
New study: Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
Some exciting news to share! MetabERN and Medics4RareDiseases are eager to combine their efforts, establishing future collaboration. Education and training of young physicians and young healthcare professionals is highly important to raise awareness about rare diseases and inspire the next generation of physicians involved in the field. The objective of M4RD is the relief of sickness and preservation of health for those suffering from rare diseases, throughout the world
IEMbase mobile app version 1.0. Inborn errors of metabolism (IEMs) represent a large class of rare genetic disorders. For a considerable proportion of IEM, therapy is available, which dramatically improves patient outcomes. Accurate and timely diagnosis is therefore essential. However, the accuracy and timeliness of an IEM diagnosis is often difficult to achieve due to a staggering number of these rare genetic disorders, the heterogeneity of symptoms and phenotypes, as well as the extensive list of required tests and skills to properly interpret these in the context of the patient’s phenotype.
The European Commission in cooperation with ECORYS has launched the ERN Exchange Programme designed to share knowledge and stimulate collaboration between healthcare professionals in the European Reference Networks (ERNs). The ERN Exchange Programme aims at harmonising specific knowledge within the ERNs and reducing gaps in expertise.
Emergency situations are a major burden for many patients suffering from Inherited Metabolic Disorders and their families. Having an emergency letter and knowing how to use it can prevent life-threatening situations and will optimize communications between parents and doctors. This webinar aims to inform patients about the emegencyprotocol.net website, which offers a generator for emergency letters.
The team of Weber Shandwick, in collaboration with EU patient groups, trade associations and policy-makers has produced a set of 10 principles and actions to aid future policy and advocacy efforts across 3 key areas.
‘Un Amico Raro’, the special episode of the animated tv series “Leo da Vinci” broadcast on Rai Ragazzi, depicts the story of a young kid living in the 16th century suffering from Anderson-Fabry disease.
European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone.
EJP RD pre-announced the upcoming opening of the call for Research Mobility Fellowships on the 15th of March, which aims to support PhD students, Postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.